*  Secondary Pulmonary Hypertension in Adults With Sickle Cell Anemia - Full Text View - ClinicalTrials.gov
Sickle cell anemia is an autosomal recessive disorder and the most common genetic disease affecting African-Americans. ... To determine whether genetic polymorphisms in candidate genes contribute to its development or response to treatment. [ Time ... Anemia. Hypertension, Pulmonary. Anemia, Sickle Cell. Vascular Diseases. Cardiovascular Diseases. Hematologic Diseases. Lung ... MedlinePlus related topics: Anemia Pulmonary Hypertension Sickle Cell Anemia Genetic and Rare Diseases Information Center ...
  https://clinicaltrials.gov/ct2/show/study/NCT00011648?view=record
*  Familial nonspherocytic anemia of Basenji dogs | definition of familial nonspherocytic anemia of Basenji dogs by Medical...
What is familial nonspherocytic anemia of Basenji dogs? Meaning of familial nonspherocytic anemia of Basenji dogs medical term ... What does familial nonspherocytic anemia of Basenji dogs mean? ... familial nonspherocytic anemia of Basenji dogs explanation free ... Looking for online definition of familial nonspherocytic anemia of Basenji dogs in the Medical Dictionary? ... sickle cell anemia. An autosomal recessive disorder that causes an abnormality of the globin genes in hemoglobin. The frequency ...
  http://medical-dictionary.thefreedictionary.com/familial+nonspherocytic+anemia+of+Basenji+dogs
*  HK1 Gene - GeneCards | HXK1 Protein | HXK1 Antibody
Complete information for HK1 gene (Protein Coding), Hexokinase 1, including: function, proteins, disorders, pathways, orthologs ... Hexokinase deficiency (HK deficiency) [MIM:235700]: Rare autosomal recessive disease with nonspherocytic hemolytic anemia as ... hemolytic anemia due to hexokinase deficiency. *hemolytic anemia, nonspherocytic, due to hexokinase deficiency ... Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=HK1&keywords=GH10G069343&prefilter=genomic_location
*  Glycogen Storage Disease Xii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
OMIM : 53 Aldolase A deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia (Kishi et al., ... normocytic anemia normochromic anemia congenital nonspherocytic hemolytic anemia normal red cell osmotic fragility ... is related to hemolytic anemia, and has symptoms including short neck, ptosis and intellectual disability. An important gene ... Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. ( 2825199 ...
  http://www.malacards.org/card/glycogen_storage_disease_xii
*  Frontiers | Red blood cell vesiculation in hereditary hemolytic anemia | Physiology
In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting ... In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting ... Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with ... little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated ...
  https://www.frontiersin.org/articles/10.3389/fphys.2013.00365/full
*  anemia facts, information, pictures | Encyclopedia.com articles about anemia
Make research projects and school reports about anemia easy with credible articles from our FREE, online encyclopedia and ... autosomal recessive inheritance).. AUTOIMMUNE HEMOLYTIC ANEMIAS. Warm antibody hemolytic anemia is the most common type of this ... SICKLE CELL ANEMIA. Sickle cell anemia (see sickle cell anemia entry) is a genetic disorder. Cells receive genes that give them ... autosomal recessive inheritance).. Autoimmune hemolytic anemia. Warm antibody hemolytic anemia is the most common type of this ...
  https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/anemia
*  Congenital erythropoietic porphyria definition | Drugs.com
... autosomal recessive inheritance, caused by mutation in the uroporphyrinogen III synthase gene (UROS) on chromosome 10q; there ... often with hemolytic anemia and persistent cutaneous photosensitivity; caused by a deficiency of uroporphyrinogen III ...
  https://www.drugs.com/dict/congenital-erythropoietic-porphyria.html
*  Basophilic stippling - BioMedSearch
Pyrimidine 5' nucleotidase-I (P5N-I) deficiency is a rare autosomal recessive disorder associated with hemolytic anemia, marked ... The gene encoding for this enzyme (P5'N-1) has been cloned recently, and seven mutations have so far been identified in 11 ... Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by ... Pyrimidine 5' nucleotidase (P5'N-1) deficiency is an autosomal recessive condition causing hemolytic anemia characterized by ...
  http://www.biomedsearch.com/searchlist.html?p=4&query_txt=Basophilic+stippling&sort=relevance
*  Hexokinase - Wikipedia
Cellular Biology portal Hexokinase deficiency is a genetic autosomal recessive disease that causes Chronic Haemolytic Anaemia. ... Chronic Haemolytic Anaemia is caused by a mutation in the HK gene, which codes for the HK enzyme. The mutation causes a ... Genes that encode hexokinase have been discovered in every domain of life, and exist among a variety of species that range from ...
  https://en.wikipedia.org/wiki/Hexokinase
*  Signs or symptoms hematomacrosis - Tips and Tricks From Doctors
It is autosomal recessive: both parents must carry the gene & not all offspring will be affected. Secondary (= due to other ... hemochromatosis can occur with certain types of hemolytic anemia (red blood cells bursting, releasing iron). ...Read more ... Recessive genetics: Hereditary hemochromatosis is a recessive genetic disease - you have to inherit two mutations, one in each ... Hemochromatosis - do I have to be a gene carrier to have symptoms? My gastro is just ck for gene not actual blood levels. Seems ...
  https://www.healthtap.com/topics/signs-or-symptoms-hematomacrosis
*  CFI Gene - GeneCards | CFAI Protein | CFAI Antibody
Complete information for CFI gene (Protein Coding), Complement Factor I, including: function, proteins, disorders, pathways, ... Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to ... It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence ... Summaries for CFI Gene Entrez Gene Summary for CFI Gene. * This gene encodes a serine proteinase that is essential for ...
  http://www.genecards.org/cgi-bin/carddisp.pl?gene=CFI
*  anti-Factor I antibody [OX-21] | GeneTex
Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to ... microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition ... Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease ... This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is ...
  http://www.genetex.com/Complement-Factor-I-antibody-OX-21-GTX41626.html
*  Glutathione synthetase - Wikipedia
Patients with mutations in the GSS gene develop glutathione synthetase (GSS) deficiency, an autosomal recessive disorder. ... Mildly affected patients experience a compensated haemolytic anaemia because mutations affect stability of the enzyme. ... In humans, defects in GSS are inherited in an autosomal recessive way and are the cause of severe metabolic acidosis, 5- ... "Molecular basis of glutathione synthetase deficiency and a rare gene permutation event". The EMBO Journal. 18 (12): 3204-13. ...
  https://en.wikipedia.org/wiki/Glutathione_synthetase
*  Pyruvate kinase - Wikipedia
Pyruvate kinase deficiency is caused by an autosomal recessive trait. Mammals have two pyruvate kinase genes, PK-LR (which ... Therefore, pyruvate kinase deficiency can cause chronic nonspherocytic hemolytic anemia (CNSHA). ... Gene expression varies between the different isozymes. M1 and M2 isozymes are regulated by the gene PKM and R and L isozymes ... As a result, gene expression can be regulated by converting the highly active tetrameric form of PKM2, which yields high PEP ...
  https://en.wikipedia.org/wiki/Pyruvate_kinase
*  Adenosine deaminase - Wikipedia
Conversely, mutations causing this enzyme to be overexpressed are one cause of hemolytic anemia . There is some evidence that a ... The resulting deficiency is one cause of severe combined immunodeficiency (SCID), particularly of autosomal recessive ... ADA human gene location in the UCSC Genome Browser. ADA human gene details in the UCSC Genome Browser. Molecular and Cellular ... "Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of protein ...
  https://en.wikipedia.org/wiki/Adenosine_deaminase
*  Most recent papers with the keyword Chronic anemia | Read by QxMD
Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene ... As patients live to adulthood, the chronic impact of sustained hemolytic anemia and episodic vaso-occlusive episodes leads to ... Ineffective erythropoiesis, chronic hemolytic anemia, and compensatory hematopoietic expansion are the disease hallmarks, and ... CLINICAL FEATURES OF THERAPY OF ANEMIA AND THE SIGNIFICANCE OF ITS FLUCTUATION IN THE DEVELOPMENT OF ANEMIA IN DIALYSIS ...
  https://www.readbyqxmd.com/keyword/92321
*  Lecithin-Cholesterol Acyltransferase Deficiency Publications and Abstracts | PubFacts.com
... an autosomal recessive disorder characterized by low high-density lipoprotein, anemia, and renal disease. This study aimed to ... deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol ... haemolytic anaemia and proteinuric chronic kidney disease (CKD); an incomplete form, only affecting the corneas, has been ... deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol ...
  https://www.pubfacts.com/search/Lecithin-Cholesterol+Acyltransferase+Deficiency
*  Isomerase - Wikipedia
... is a severe autosomal recessive inherited multisystem disorder of glycolyic metabolism. It is characterized by hemolytic anemia ... The most common mutation is the substitution of gene, Glu104Asp, which produces the most severe phenotype, and is responsible ... Being an autosomal recessive inherited disease, TPI deficiency has a 25% recurrence risk in the case of heterozygous parents. ... It is a congenital disease that most often occurs with hemolytic anemia and manifests with jaundice. Most patients with TPI for ...
  https://en.wikipedia.org/wiki/Isomerase
*  Glutathione synthetase deficiency - Wikipedia
The parents of an individual with an autosomal recessive disorder each carry one copy of the defective gene, but usually are ... Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). Rarely, ... This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two ... Glutathione synthetase deficiency is a rare autosomal recessive metabolic disorder that prevents the production of glutathione ...
  https://en.wikipedia.org/wiki/Glutathione_synthetase_deficiency
*  Most recent papers in the journal F1000Research | Read by QxMD
Thalassemia (thal) is an autosomal recessive, hereditary, chronic hemolytic anemia due to a partial or complete deficiency in ... When located in a gene promoter, DNA methylation often acts to repress transcription and gene expression. The most commonly ... RET, encoded by the most common driver gene in MTC, has been shown to be a dual function kinase, thus expanding its potential ... Gene set enrichment analysis is a popular approach for prioritising the biological processes perturbed in genomic datasets. The ...
  https://www.readbyqxmd.com/journal/47841
*  Most recent papers with the keyword chronic kidney disease anemia | Read by QxMD
... deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol ... moderate haemolytic anaemia and very low plasma levels of HDL. We here report a 34 year-old lady who presented with ... Certain symptoms previously attributed to CKD are now known to be a consequence of anemia. Anemia contributes to an increased ... Anemia is a common complication of chronic kidney disease (CKD) and a predictor of increased mortality. This project integrated ...
  https://www.readbyqxmd.com/keyword/17185
*  Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis - FullText - Case Reports in Gastroenterology 2015,...
It is an autosomal recessive disorder due to two mutant alleles, usually C282Y, of the HFE gene and is characterized by tissue ... 3) Anemias: (a) thalassemia major; (b) chronic hemolytic anemia; (c) pyruvate kinase deficiency. (4) Others: (a) dysmetabolic ... transferrinemia is an extremely rare autosomal recessive disorder of iron overload characterized by severe microcytic anemia [9 ... Secondary or acquired iron overload state, in the absence of an abnormal gene, suggests disorders such as chronic hemolytic ...
  https://www.karger.com/Article/FullText/373883
*  Most recent papers with the keyword Chronic renal failure | Read by QxMD
... deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol ... moderate haemolytic anaemia and very low plasma levels of HDL. We here report a 34 year-old lady who presented with ... Considering that the promoter region of gene encoding C-reactive protein (CRP) contains binding sites for HNF1α and that the ...
  https://www.readbyqxmd.com/keyword/2101
*  Triosephosphate isomerase deficiency - Wikipedia
Schneider, Arthur S.; William N. Valentine; Hattori M; H. L. Heins Jr (1965). "Hereditary Hemolytic Anemia with Triosephosphate ... Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965. It ... Thirteen different mutations in the respective gene, which is located at chromosome 12p13 and encodes the ubiquitous ... is a unique glycolytic enzymopathy that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to ...
  https://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency
*  NT5C3 - Wikipedia
Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively ... The loss of NT5C3 in pyrimidine 5' nucleotidase deficiency, an autosomal recessive condition, leads to the accumulation of high ... This deficiency is characterized by moderate hemolytic anemia, jaundice, splenomegaly, and marked basophilic stippling, and has ... 2001). "Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency". Blood. 97 (11): 3327-32. doi: ...
  https://en.wikipedia.org/wiki/NT5C3